Variant #0000331219 (NC_000006.11:g.131923400G>A, ARG1(NM_000045.3):c.*18352G>A)

Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.131923400G>A
DNA change (hg38) g.131602260G>A
Published as MED23(NM_001270521.1):c.2053C>T (p.(Arg685Ter))
ISCN -
DB-ID MED23_000006
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ARG1 NM_000045.3 ?/. - c.*18352G>A r.(=) p.(=)
MED23 NM_015979.3 ?/. - c.2071C>T r.(?) p.(Arg691Ter)